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Tbc1d20 TBC1 domain family, member 20 [ Mus musculus (house mouse) ]

Gene ID: 67231, updated on 28-Oct-2024

Summary

Official Symbol
Tbc1d20provided by MGI
Official Full Name
TBC1 domain family, member 20provided by MGI
Primary source
MGI:MGI:1914481
See related
Ensembl:ENSMUSG00000027465 AllianceGenome:MGI:1914481
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
bs; 1110028I04Rik; 2810442O16Rik
Summary
Predicted to enable GTPase activator activity and small GTPase binding activity. Acts upstream of or within several processes, including acrosome assembly; lens fiber cell morphogenesis; and seminiferous tubule development. Predicted to be located in Golgi membrane; endoplasmic reticulum; and nuclear membrane. Predicted to be active in endoplasmic reticulum membrane. Used to study Warburg micro syndrome 4. Human ortholog(s) of this gene implicated in Warburg micro syndrome 4. Orthologous to human TBC1D20 (TBC1 domain family member 20). [provided by Alliance of Genome Resources, Oct 2024]
Expression
Ubiquitous expression in testis adult (RPKM 91.9), subcutaneous fat pad adult (RPKM 40.4) and 28 other tissues See more
Orthologs
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Genomic context

See Tbc1d20 in Genome Data Viewer
Location:
2 G3; 2 74.83 cM
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (152135745..152155914)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (152293826..152313994)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_06048 Neighboring gene ribosomal protein S15A, pseudogene 7 Neighboring gene STARR-seq mESC enhancer starr_06049 Neighboring gene STARR-seq mESC enhancer starr_06050 Neighboring gene STARR-positive B cell enhancer ABC_E6001 Neighboring gene casein kinase 2, alpha 1 polypeptide Neighboring gene STARR-seq mESC enhancer starr_06051 Neighboring gene STARR-seq mESC enhancer starr_06052 Neighboring gene STARR-positive B cell enhancer ABC_E10153 Neighboring gene RanBP-type and C3HC4-type zinc finger containing 1 Neighboring gene STARR-positive B cell enhancer ABC_E11172 Neighboring gene tribbles pseudokinase 3

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
blind-sterile
GeneReviews: Not available

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
enables GTPase activator activity ISO
Inferred from Sequence Orthology
more info
 
enables small GTPase binding IEA
Inferred from Electronic Annotation
more info
 
enables small GTPase binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in COPII-coated vesicle cargo loading IEA
Inferred from Electronic Annotation
more info
 
involved_in COPII-coated vesicle cargo loading ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within Golgi organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in Golgi organization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within acrosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within camera-type eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within lens development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within lens fiber cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within lipid droplet organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within male gonad development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation by host of viral genome replication IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation by host of viral genome replication ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation by virus of viral protein levels in host cell IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation by virus of viral protein levels in host cell ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of ER to Golgi vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of ER to Golgi vesicle-mediated transport ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of GTPase activity ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within seminiferous tubule development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within spermatogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in virion assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in virion assembly ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
located_in Golgi membrane ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
TBC1 domain family member 20

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_024196.4NP_077158.1  TBC1 domain family member 20

    See identical proteins and their annotated locations for NP_077158.1

    Status: VALIDATED

    Source sequence(s)
    AL831735
    Consensus CDS
    CCDS16880.1
    UniProtKB/Swiss-Prot
    Q3TYW9, Q99LW2, Q9D9I4
    UniProtKB/TrEMBL
    Q0P648, Q3T9Q9
    Related
    ENSMUSP00000028963.8, ENSMUST00000028963.14
    Conserved Domains (1) summary
    pfam00566
    Location:62265
    RabGAP-TBC; Rab-GTPase-TBC domain

RNA

  1. NR_156111.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AK036751, BY311174

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    152135745..152155914
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001783169.3 RNA Sequence